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Clinical-Genomics / raredisease

CG's rare disease pipeline in next flow, see the main repo here 👇
https://github.com/nf-core/raredisease
MIT License
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Mastermind #22

Open dnil opened 3 months ago

dnil commented 3 months ago

Description of feature

There appears to be some tentative user interest for the Genomenon Mastermind - see this thread. VEP has a plugin https://github.com/Ensembl/VEP_plugins/blob/release/112/Mastermind.pm that we might enable, and the annotation data file from Genomenon (https://www.genomenon.com/cvr/) providing linking ids and counts are apparently free, while the website as such has a very limited "fair use" policy before requiring a payed subscription. Since the public resources are lagging a little, perhaps this could be considered useful?

jemten commented 3 months ago

Sounds like a plan. Spoke briefly to them at ESHG and we can probably setup a trial period if we want to link out to the full version from scout.